Mu Du

Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype–Phenotype Spectrum

Background: Seckel syndrome (SCKL) is a rare autosomal-recessive inherited disorder characterized by intrauterine and postnatal growth restriction, microcephaly, “bird-like” facial dysmorphisms, and mild-to-moderate intellectual disability (ID). CEP152 is one of the known causati...